RESUMEN
We describe prenatal diagnosis of Poland-Möbius syndrome using a combination of ultrasound and MRI. Poland syndrome was diagnosed based on absence of the pectoralis muscles associated with dextroposition of the fetal heart and elevation of the left diaphragm. Associated brain anomalies that led to the diagnosis of Poland-Möbius syndrome, included ventriculomegaly, hypoplastic cerebellum, tectal beaking, and a peculiar flattening of the posterior aspect of the pons and medulla oblongata, which has been reported by postnatal diffusion tensor imaging studies as a reliable neuroimaging marker for Möbius syndrome. Since abnormalities of cranial nerves VI and VII may be difficult to detect prenatally, careful attention to the appearance of the brain stem as illustrated in the current report may aid in the prenatal diagnosis of Möbius syndrome.
Asunto(s)
Síndrome de Mobius , Síndrome de Poland , Femenino , Humanos , Embarazo , Imagen de Difusión Tensora , Síndrome de Mobius/diagnóstico por imagen , Síndrome de Poland/diagnóstico por imagen , Diagnóstico PrenatalRESUMEN
BACKGROUND: Infants born very preterm (≤32 weeks gestational age, GA) and very-low birth weight (≤1500 g; PT-VLBW) demonstrate high systolic blood pressure (SBP), renal dysfunction, and obesity at 6 months-3 years and in early adulthood. Their parallel measurement and progression during childhood is unclear. METHODS: We reenrolled 62/120 patients originally seen at 1-3 years at 10-13 years and remeasured anthropometric indices, SBP, and serum creatinine (Cr) and cystatin C (cysC) to determine estimated glomerular filtration rate (eGFR). We selected Term-matched Controls at 10-13 years from the 2015-2016 NHANES database at a ratio of 2 Controls:1 Case (124:62). RESULTS: Reenrolled patients were predominantly Hispanic, birth weight 1073 ± 251 g, and GA at birth 28 ± 2 weeks. At 10-13 years, 45% were classified overweight/obese, 48% had SBP ≥ 90th centile (77% considered hypertensive), and 34% had low eGFR (<90 mL min-1 [1.73 m2]-1). Notably, 57% of reenrolled PT-VLBW Cases had low eGFRcysC at both 1-3 and 10-13 years, P < 0.03. Compared to Controls, Cases had four times the adjusted odds for having an elevated SBP and low eGFRCr despite similar proportions with overweight/obesity among Cases and Controls. CONCLUSIONS: PT-VLBW infants seen at 1-3 years exhibit obesity, elevated SBP, and low eGFR in infancy and 10-13 years. Although the small sample size may limit conclusions, pediatricians should consider serial evaluations of PT-VLBW throughout childhood. IMPACT: The association between preterm birth and elevated blood pressure, renal dysfunction, and obesity in young adults begins as early as 1 year and persists at 10-13 years of age. This is the first study reporting serial measurements of blood pressure, renal function, and obesity from infancy to preadolescence in children born very preterm. Fifty-seven percent of preterm 1-3 year olds have persistent low estimated glomerular filtration rate associated with hypertension at 10-13 years. Clinicians should consider serial evaluations of blood pressure, renal function, and obesity throughout infancy and childhood in all preterm births.
Asunto(s)
Hipertensión , Enfermedades Renales , Nacimiento Prematuro , Lactante , Niño , Femenino , Humanos , Recién Nacido , Preescolar , Adulto , Recien Nacido Prematuro , Sobrepeso , Riñón , Encuestas Nutricionales , Presión Sanguínea/fisiología , Obesidad , Tasa de Filtración GlomerularRESUMEN
OBJECTIVE: This study was aimed to evaluate the effect of human milk protein fortifier (HMPF) versus bovine milk protein fortifier (BMPF) on feeding tolerance defined as the time to reach full feeds and necrotizing enterocolitis (NEC) in premature very low birth weight (VLBW) infants. STUDY DESIGN: A retrospective review using the BabySteps Database included 493 infants born ≤33 weeks of gestational age and ≤1,250 g (g) birth weight. A total of 218 infants fed a human milk diet (HMD) with BMPF were compared with 275 infants fed an HMD with HMPF. RESULTS: Full feeds were reached significantly sooner in the HMPF group (median: 14 vs. 16 days, p = 0.04). Weight at full feeds was significantly lower in the HMPF group (1,060 vs. 1110 g, p = 0.03). CONCLUSION: Using HMPF to provide an exclusively HMD allowed VLBW infants to achieve full feeds sooner, but did not affect rate of NEC compared with using a BMPF with an HMD. KEY POINTS: · Human milk fortifiers with human milk are better than bovine human milk protein fortifiers.. · Full feeds are reached sooner with a human milk protein fortifier.. · The incidence of NEC did not change with the use of Prolacta..
Asunto(s)
Enterocolitis Necrotizante , Leche Humana , Enterocolitis Necrotizante/epidemiología , Enterocolitis Necrotizante/prevención & control , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Proteínas de la Leche , Estudios RetrospectivosRESUMEN
Using a large consortium of undergraduate students in an organized program at the University of California, Los Angeles (UCLA), we have undertaken a functional genomic screen in the Drosophila eye. In addition to the educational value of discovery-based learning, this article presents the first comprehensive genomewide analysis of essential genes involved in eye development. The data reveal the surprising result that the X chromosome has almost twice the frequency of essential genes involved in eye development as that found on the autosomes.